Corrigendum: Exome Sequencing Extends the Phenotypic Spectrum for ABHD12 Mutations: From Syndromic to Nonsyndromic Retinal Degeneration (Ophthalmology (2014) 121(8) (1620–1627)(S0161642014001389)(10.1016/j.ophtha.2014.02.008));Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: From syndromic to nonsyndromic retinal degeneration

Ophthalmology

Volumn 121, Issue 8, 2014, Pages 1620-1627

  Nishiguchi, Koji M ^a   Avila Fernandez, Almudena ^b   Van Huet, Ramon A C ^c   Corton, Marta ^b   Pérez Carro, Raquel ^b   Martín Garrido, Esther ^b   López Molina, María Isabel ^d   Blanco Kelly, Fiona ^b   Hoefsloot, Lies H ^c   Van Zelst Stams, Wendy A ^c   García Ruiz, Pedro J ^d   Del Val, Javier ^d   Di Gioia, Silvio Alessandro ^a   Klevering, B Jeroen ^c   Van De Warrenburg, Bart P C ^c,e   Vazquez, Carlos ^f   Cremers, Frans P M ^c,g   García Sandoval, Blanca ^d   Hoyng, Carel B ^c   Collin, Rob W J ^c,g   Rivolta, Carlo ^a   Ayuso, Carmen ^b   more..

^a UNIVERSITY OF LAUSANNE   (Switzerland)

^b CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^d Hospital UniversitarioFundación Jiménez Díaz   (Spain)

^e RADBOUD UNIVERSITY   (Netherlands)

^f HOSPITAL UNIVERSITARIO INSULAR DE GRAN CANARIA   (Spain)

^g RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Abbreviations and Acronyms; arRP; autosomal recessive retinitis pigmentosa; magnetic resonance imaging; MRI; PHARC; polyneuropathy, hearing loss, cerebellar ataxia, RP, and early onset cataract; retinitis pigmentosa; RP; WES; whole exome sequencing

Indexed keywords

ABHD12 GENE; ARTICLE; CONTROLLED STUDY; DNA SEQUENCE; ELECTRORETINOGRAM; EXOME; GENE; GENOTYPE; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; INTRON; MAJOR CLINICAL STUDY; MISSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PEDIGREE; PHENOTYPE; POLYNEUROPATHY HEARING LOSS CEREBELLAR ATAXIA RETINITIS PIGMENTOSA AND EARLY ONSET CATARACT SYNDROME; PRIORITY JOURNAL; RETINA DEGENERATION; RETINITIS PIGMENTOSA; VISUAL ACUITY; ADULT; AGED; ATAXIA; AUDIOMETRY; CATARACT; CHEMISTRY; ELECTRORETINOGRAPHY; FEMALE; GENETICS; MALE; MIDDLE AGED; PATHOPHYSIOLOGY; PHYSIOLOGY; POLYNEUROPATHIES; PROTEIN SECONDARY STRUCTURE; RECESSIVE GENE; VISUAL FIELD;

ABHD12 PROTEIN, HUMAN; ACYLGLYCEROL LIPASE;

ADULT; AGED; ATAXIA; AUDIOMETRY; CATARACT; ELECTRORETINOGRAPHY; EXOME; FEMALE; GENES, RECESSIVE; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; MONOACYLGLYCEROL LIPASES; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; POLYNEUROPATHIES; PROTEIN STRUCTURE, SECONDARY; RETINITIS PIGMENTOSA; SEQUENCE ANALYSIS, DNA; VISUAL ACUITY; VISUAL FIELDS;

EID: 84905451690     PISSN: 01616420     EISSN: 15494713     Source Type: Journal    
DOI: 10.1016/j.ophtha.2016.11.028     Document Type: Erratum

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